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- Craddock, Nick, et al.
(författare)
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Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls
- 2010
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Ingår i: Nature. - : Springer Science and Business Media LLC. - 0028-0836 .- 1476-4687. ; 464:7289, s. 713-720
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Tidskriftsartikel (refereegranskat)abstract
- Copy number variants (CNVs) account for a major proportion of human genetic polymorphism and have been predicted to have an important role in genetic susceptibility to common disease. To address this we undertook a large, direct genome-wide study of association between CNVs and eight common human diseases. Using a purpose-designed array we typed,19,000 individuals into distinct copy-number classes at 3,432 polymorphic CNVs, including an estimated similar to 50% of all common CNVs larger than 500 base pairs. We identified several biological artefacts that lead to false-positive associations, including systematic CNV differences between DNAs derived from blood and cell lines. Association testing and follow-up replication analyses confirmed three loci where CNVs were associated with disease-IRGM for Crohn's disease, HLA for Crohn's disease, rheumatoid arthritis and type 1 diabetes, and TSPAN8 for type 2 diabetes-although in each case the locus had previously been identified in single nucleotide polymorphism (SNP)-based studies, reflecting our observation that most common CNVs that are well-typed on our array are well tagged by SNPs and so have been indirectly explored through SNP studies. We conclude that common CNVs that can be typed on existing platforms are unlikely to contribute greatly to the genetic basis of common human diseases.
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| 2. |
- Lhomme, Patrick, et al.
(författare)
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Diversification Pattern of the Widespread Holarctic Cuckoo Bumble Bee, Bombus flavidus (Hymenoptera: Apidae) : The East Side Story
- 2021
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Ingår i: Insect Systematics and Diversity. - : Oxford University Press (OUP). - 2399-3421. ; 5:2, s. 1-15
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Tidskriftsartikel (refereegranskat)abstract
- Recent bumble bee declines have made it increasingly important to resolve the status of contentious species for conservation purposes. Some of the taxa found to be threatened are the often rare socially parasitic bumble bees. Among these, the socially parasitic bumble bee, Bombus flavidus Eversmann, has uncertain species status. Although multiple separate species allied with B. flavidus have been suggested, until recently, recognition of two species, a Nearctic Bombus fernaldae (Franklin) and Palearctic B. flavidus, was favored. Limited genetic data, however, suggested that even these could be a single widespread species. We addressed the species status of this lineage using an integrative taxonomic approach, combining cytochrome oxidase I (COI) and nuclear sequencing, wing morphometrics, and secretions used for mate attraction, and explored patterns of color polymorphism that have previously confounded taxonomy in this lineage. Our results support the conspecificity of fernaldae and flavidus; however, we revealed a distinct population within this broader species confined to eastern North America. This makes the distribution of the social parasite B. flavidus the broadest of any bumble bee, broader than the known distribution of any nonparasitic bumble bee species. Color polymorphisms are retained across the range of the species, but may be influenced by local mimicry complexes. Following these results, B. flavidusEversmann, 1852 is synonymized with Bombus fernaldae (Franklin, 1911) syn. nov. and a subspecific status, Bombus flavidus appalachiensisssp. nov., is assigned to the lineage ranging from the Appalachians to the eastern boreal regions of the United States and far southeastern Canada.
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